ID   HMGUi003-A
AC   CVCL_C0HS
SY   95595; PPCS-Cl2
DR   BioSamples; SAMEA11371739
DR   hPSCreg; HMGUi003-A
DR   Wikidata; Q112929733
RX   PubMed=35397396;
CC   From: Helmholtz Zentrum Munchen; Neuherberg; Germany.
CC   Population: Caucasian; German.
CC   Sequence variation: Mutation; HGNC; 25686; PPCS; Simple; p.Pro107_Ala111del (c.320_334del); ClinVar=VCV000590784; Zygosity=Heterozygous (PubMed=35397396).
CC   Sequence variation: Mutation; HGNC; 25686; PPCS; Simple; p.Ala180Pro (c.538G>C); ClinVar=VCV000590783; Zygosity=Heterozygous (PubMed=35397396).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C186785; Dilated cardiomyopathy-2C
DI   ORDO; Orphanet_154; Familial isolated dilated cardiomyopathy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   3M
CA   Induced pluripotent stem cell
DT   Created: 23-06-22; Last updated: 29-06-23; Version: 4
//
RX   PubMed=35397396; DOI=10.1016/j.scr.2022.102773;
RA   Iuso A., Zhang F.-F., Rusha E., Campbell B., Dorn T., Zanuttigh E.,
RA   Haas D., Anikster Y., Lederer G., Pertek A., Nteli P., Laugwitz K.-L.,
RA   Moretti A.;
RT   "Generation of two human iPSC lines, HMGUi003-A and MRIi028-A,
RT   carrying pathogenic biallelic variants in the PPCS gene.";
RL   Stem Cell Res. 61:102773-102773(2022).
//